DisGeNET - a database of gene-disease associations

List of shared variants

Carcinoma, Ovarian Epithelial, C4721610

Disease: Neoplastic Syndromes, Hereditary

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		44
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42
rs397516436	TP53	0.641	0.440	17	7674894	stop gained	G/A;C	snv			34
rs876660754	TP53	0.701	0.360	17	7675095	missense variant	C/A;T	snv			20
rs137853011	CHEK2	0.763	0.280	22	28695219	missense variant	G/A	snv	4.9E-04	2.6E-04	16
rs28897672	BRCA1	0.732	0.280	17	43106487	missense variant	A/C;G;T	snv	3.2E-05		16
rs80358721	BRCA2	0.724	0.320	13	32339320	stop gained	C/A;G;R	snv	4.2E-06		14
rs41293459	BRCA1	0.763	0.280	17	43063930	missense variant	C/A;G;T	snv	2.4E-05		12
rs200389141	BLM	0.776	0.320	15	90761015	stop gained	C/A;T	snv	4.1E-06; 1.4E-04	1.7E-04	11
rs200928781	CHEK2	0.752	0.240	22	28695800	missense variant	T/A;C;G	snv	2.4E-05		11
rs28897696	BRCA1	0.807	0.200	17	43063903	missense variant	G/A;C;T	snv	2.8E-05; 4.0E-06; 2.0E-05		11
rs748876625	BRCA1	0.807	0.160	17	43104122	missense variant	C/A;G	snv	1.2E-05		10
rs80357522	BRCA1	0.776	0.280	17	43093570	frameshift variant	TTTT/-;TT;TTT;TTTTT	delins		7.0E-06	10
rs200640585	PMS2	0.790	0.280	7	5992018	stop gained	G/A	snv	1.6E-05	1.4E-05	9
rs80356952	BRCA1	0.790	0.200	17	43093901	stop gained	G/A	snv			9
rs587778617	PMS2	0.807	0.240	7	5987504	stop gained	G/A	snv		7.0E-06	8
rs587782818	RAD51C	0.790	0.160	17	58703325	stop gained	C/G	snv	6.4E-05; 4.0E-06	1.4E-05	8
rs80357115	BRCA1	0.790	0.200	17	43092597	stop gained	A/C;T	snv			8
rs767796996	RAD51C	0.827	0.200	17	58695189	stop gained	G/A;C	snv	4.1E-06		6
rs80357106	BRCA1	0.827	0.200	17	43092212	stop gained	C/A	snv			6
rs80357268	BRCA1	0.827	0.200	17	43045773	missense variant	C/T	snv	4.0E-06		6
rs80357327	BRCA1	0.827	0.200	17	43115730	missense variant	A/C;G;T	snv			6
rs80357678	BRCA1	0.851	0.200	17	43091614	frameshift variant	AA/-	del			5